SEVERE SEMILOBAR HOLOPROSENCEPHALY AND LISSENCEPHALY ASSOCIATED WITH CEBOCEPHALY IN A NEWBORN

Oncel M. Y., Yurttutan N., Yurttutan S., Ozdemir R., Canpolat F. E., Erdeve Ö., ...Daha Fazla

GENETIC COUNSELING, cilt.23, sa.3, ss.341-346, 2012 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 23 Sayı: 3
  • Basım Tarihi: 2012
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED)
  • Sayfa Sayıları: ss.341-346
  • Anahtar Kelimeler: Cebocephaly, Holoprosencephaly, Lissencephaly, Newborn, AICARDI SYNDROME, XXY MALE, DIAGNOSIS
  • Ankara Üniversitesi Adresli: Evet

Özet

Severe semilobar holoprosencephaly and lissencephaly associated with cebocephaly in a newborn: Holoprosencephaly is frequently accompanied by midline facial abnormalities such as hypotelorism, cyclopia, etmocephaly and cebocephaly. Cebocephaly is a very rare congenital anomaly combining with semilobar holoprosencephaly. Chromosomal analysis shows normal karyotyping. Lissencephaly and holoprosencephaly are rare associations, that have not been reported yet with cebocephaly. Herein we present the first case of cebocephaly with severe semilobar holoprosencephaly and lissencephaly.